{
    "id": "A2RUQ5-1.167.167",
    "start_pos": 167,
    "end_pos": 167,
    "up_seq": "GIVGTTVSRTKPALVLMELT",
    "site_seq": "F",
    "down_seq": "F",
    "uniprot_canonical_ac": "A2RUQ5-1",
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "A2RUQ5",
                    "url": "https://www.uniprot.org/uniprot/A2RUQ5"
                }
            ],
            "common_name": "Human"
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "A2RUQ5",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUQ5"
                }
            ],
            "glycoeffect": [],
            "subjects_tested": "94",
            "subjects_positive": "1",
            "frequency": "1.1",
            "sequence_org": "F",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).",
            "chr_id": "17",
            "chr_pos": "32904549",
            "ref_nt": "G",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0023113",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023113",
                            "name": "familial colorectal cancer",
                            "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories."
                        },
                        {
                            "id": "MONDO:0023113",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023113",
                            "name": "hereditary colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023113",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023113",
                            "name": "colorectal cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        }
    ],
    "all_sites": [
        {
            "type": "snv",
            "site_list": [
                {
                    "start_pos": "11",
                    "end_pos": "11"
                },
                {
                    "start_pos": "131",
                    "end_pos": "131"
                },
                {
                    "start_pos": "167",
                    "end_pos": "167"
                },
                {
                    "start_pos": "60",
                    "end_pos": "60"
                }
            ]
        }
    ],
    "categories": [
        "snv_flag"
    ],
    "glycosylation": [],
    "mutagenesis": [],
    "phosphorylation": [],
    "glycation": []
}